Canonical Allele Identifier: CA31667967

Gene: MPZ

Linked Data

• dbSNP Id: rs537709350
• gnomAD v3: 1-161306146-G-A
• gnomAD v4: 1-161306146-G-A
• MyVariant Identifiers: chr1:g.161275936G>A (hg19) ; chr1:g.161306146G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306146G>A , CM000663.2:g.161306146G>A	GRCh38
NC_000001.10:g.161275936G>A , CM000663.1:g.161275936G>A	GRCh37
NC_000001.9:g.159542560G>A	NCBI36
NG_008055.1:g.8827C>T , LRG_256:g.8827C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.526C>T	ENSP00000488104.2:p.His176Tyr
ENST00000533357.5:c.607C>T MANE Select	ENSP00000432943.1:p.His203Tyr
ENST00000672287.2:c.19C>T	ENSP00000499818.2:p.His7Tyr
ENST00000672602.2:c.607C>T	ENSP00000500814.2:p.His203Tyr
ENST00000674861.1:n.670C>T
ENST00000463290.5:c.607C>T	ENSP00000431538.1:p.His203Tyr
ENST00000476410.1:n.67C>T
ENST00000488271.1:n.45C>T
ENST00000491222.5:c.19C>T	ENSP00000431441.1:p.His7Tyr
ENST00000526189.2:c.270C>T
ENST00000533357.4:c.607C>T	ENSP00000432943.1:p.His203Tyr
NM_000530.6:c.607C>T , LRG_256t1:c.607C>T	NP_000521.2:p.His203Tyr
NM_000530.7:c.607C>T	NP_000521.2:p.His203Tyr
NM_001315491.1:c.607C>T	NP_001302420.1:p.His203Tyr
XM_017001321.2:c.637C>T	XP_016856810.1:p.His213Tyr
NM_000530.8:c.607C>T MANE Select	NP_000521.2:p.His203Tyr
NM_001315491.2:c.607C>T	NP_001302420.1:p.His203Tyr